VARIANT: 1621v1
Help
Entry
1621v1 Variant
Name
DBH deficiency
Type
Loss of function
Gene
DBH
dopamine beta-hydroxylase [KO:
K00503
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
609312
Network
nt06028
Dopamine and serotonin metabolism
nt06544
Neuroactive ligand signaling
Disease
H01005
Dopamine beta-hydroxylase deficiency
H02751
Orthostatic hypotension
Reference
PMID:
11857564
Authors
Kim CH, Zabetian CP, Cubells JF, Cho S, Biaggioni I, Cohen BM, Robertson D, Kim KS
Title
Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency.
Journal
Am J Med Genet 108:140-7 (2002)
DOI:
10.1002/ajmg.10196
LinkDB
All DBs
DBGET
integrated database retrieval system